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rs201273753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201273753(C;C)
Make rs201273753(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48472617
GeneFBN1
is asnp
is mentioned by
dbSNPrs201273753
ebirs201273753
HLIrs201273753
Exacrs201273753
Varsomers201273753
Maprs201273753
PheGenIrs201273753
hapmaprs201273753
1000 genomesrs201273753
hgdprs201273753
ensemblrs201273753
gopubmedrs201273753
geneviewrs201273753
scholarrs201273753
googlers201273753
pharmgkbrs201273753
gwascentralrs201273753
openSNPrs201273753
23andMers201273753
23andMe allrs201273753
SNP Nexus

SNPshotrs201273753
SNPdbers201273753
MSV3drs201273753
GWAS Ctlgrs201273753
Max Magnitude0
ClinVar
Risk rs201273753(C;C)
Alt rs201273753(C;C)
Reference rs201273753(G;G)
Significance Pathogenic
Disease Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000015.9:g.48764814G>C
CLNSRC ClinVar University of Washington
CLNACC RCV000035194.3, RCV000161118.3, RCV000226865.1,